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MCID: HYP458
MIFTS: 49

Hyper Ige Syndrome

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 53
Hyper-Ige Syndrome 37 29 55 6
Hyper-Ige Recurrent Infection Syndrome 53
Hyperimmunoglobulin E Syndrome 53
Hartnup Disease 73
Job Syndrome 73
H Disease 55
Hies 53

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 37 H01968
UMLS 73 C3887645
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Summaries for Hyper Ige Syndrome

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NIH Rare Diseases : 53 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome, autosomal dominant and dermatitis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are TGF-Beta Pathway and Cytokine Signaling in Immune system. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and t cells, and related phenotypes are cellular and hematopoietic system

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome, autosomal dominant 33.5 DOCK8 STAT3 TYK2
2 dermatitis 29.5 IFNG IGHE IL4 STAT3
3 renal cell carcinoma, nonpapillary 28.5 IFNG IL4 IL4R
4 aspergillosis 28.5 IFNG IL4 TLR2
5 dermatitis, atopic 27.8 IFNG IGHE IL4 IL4R TLR2
6 asthma 27.7 IFNG IGHE IL4 IL4R
7 hemoglobin h disease 12.5
8 his bundle tachycardia 12.3
9 hyper-ige recurrent infection syndrome, autosomal recessive 12.0
10 immunodeficiency 35 11.6
11 alpha-thalassemia myelodysplasia syndrome 11.2
12 leukocyte adhesion deficiency, type iii 11.1
13 mixed lacrimal gland cancer 10.5 STAT3 TYK2
14 staphylococcal toxic shock syndrome 10.5 IFNG IGHE
15 peanut allergy 10.4 IFNG IGHE
16 egg allergy 10.3 IGHE IL4
17 immunodeficiency with hyper-igm, type 1 10.3 IGHE IL4
18 latex allergy 10.2 IGHE IL4
19 suppurative lymphadenitis 10.2 DOCK8 IFNG STAT3
20 gastrointestinal allergy 10.2 IGHE IL4
21 mycoplasmal pneumonia 10.2 IFNG IL4
22 beta-lactam allergy 10.2 IL4 IL4R
23 lymphoma 10.2
24 hyperlucent lung 10.2 IFNG IL4
25 b-cell growth factor 10.2 IFNG IL4
26 hyperimmunoglobulin syndrome 10.2 DOCK8 STAT3 TYK2
27 baylisascariasis 10.2 IFNG IL4
28 microscopic colitis 10.1 IFNG IL4
29 urinary schistosomiasis 10.1 IFNG IL4
30 buruli ulcer 10.1 IFNG IL4
31 folliculitis 10.1 IFNG IL4
32 poliomyelitis 10.1 IFNG IL4
33 hematopoietic stem cell transplantation 10.1
34 vulvovaginal candidiasis 10.1 IFNG IL4
35 orofacial granulomatosis 10.1 IFNG IL4
36 coccidiosis 10.1 IFNG IL4
37 eales disease 10.1 IFNG IL4
38 lichen disease 10.0 IFNG IL4
39 thalassemia 10.0
40 proliferative glomerulonephritis 10.0 IFNG IL4
41 cryptococcosis 10.0 IFNG IL4
42 pneumonia 10.0
43 molluscum contagiosum 10.0
44 aneurysm 10.0
45 paranasal sinus disease 10.0 IFNG IL4
46 rasmussen encephalitis 9.9 IFNG IL4
47 acute graft versus host disease 9.9 IFNG IL4
48 myositis fibrosa 9.9 IFNG TLR2
49 systemic lupus erythematosus 9.9
50 b-cell lymphomas 9.9

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 DOCK8 IFNG STAT3 IL4 TLR2 TYK2
2 hematopoietic system MP:0005397 9.97 PGM3 IFNG STAT3 IL4 TLR2 IL4R
3 immune system MP:0005387 9.92 PGM3 IFNG STAT3 IL4 TLR2 IL4R
4 digestive/alimentary MP:0005381 9.91 PGM3 IFNG STAT3 IL4 TLR2 IL4R
5 endocrine/exocrine gland MP:0005379 9.88 PGM3 IFNG STAT3 IL4 TLR2 IL4R
6 mortality/aging MP:0010768 9.76 HBA2 PGM3 IFNG STAT3 IL4 TLR2
7 liver/biliary system MP:0005370 9.65 IFNG STAT3 IL4 TLR2 IL4R
8 renal/urinary system MP:0005367 9.35 PGM3 IFNG STAT3 IL4 TLR2
9 respiratory system MP:0005388 9.02 IFNG STAT3 IL4 TLR2 IL4R
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Steroid Synthesis Inhibitors Phase 3
4 Cytochrome P-450 Enzyme Inhibitors Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
9 Antifungal Agents Phase 3,Phase 2
10 Antiparasitic Agents Phase 3,Phase 2
11 Antiprotozoal Agents Phase 3,Phase 2
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
13
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
14
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16 Antibodies Phase 2,Phase 1
17 Immunoglobulins Phase 2,Phase 1
18 Anti-Bacterial Agents Phase 2,Not Applicable
19 Liposomal amphotericin B Phase 2
20 Autoantibodies Phase 2
21 Agglutinins Phase 2
22 Vaccines Phase 2
23 Ranitidine bismuth citrate Phase 2
24
Bismuth Phase 2 7440-69-9 16682734 105143
25
Histamine Phosphate Phase 2 51-74-1 65513
26 Gastrointestinal Agents Phase 2
27 Neurotransmitter Agents Phase 2
28 Histamine Antagonists Phase 2
29 Histamine H2 Antagonists Phase 2
30 Antacids Phase 2
31 Anti-Ulcer Agents Phase 2
32 Bismuth tripotassium dicitrate Phase 2
33 Citrate Nutraceutical Phase 2
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Respiratory System Agents Phase 1
36 Anti-Allergic Agents Phase 1
37 Anti-Asthmatic Agents Phase 1
38 Coagulase Not Applicable
39 Yellow Dock Nutraceutical

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
3 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Active, not recruiting NCT02996448 Phase 2 NDV-3A
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
10 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
11 Study of Mycobacterial Infections Recruiting NCT00018044
12 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819 Not Applicable S. aureus
13 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
14 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
15 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
16 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
17 Genetic Analysis of Immune Disorders Enrolling by invitation NCT00001467

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29
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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

41
Skin, Lung, T Cells, Bone, Bone Marrow, B Cells, Neutrophil
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Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 264)
# Title Authors Year
1
Evaluation of the Role of <i>stat3</i> in Antibody and T<sub>H</sub>17-Mediated Responses to Pneumococcal Immunization and Infection by Use of a Mouse Model of Autosomal Dominant Hyper-IgE Syndrome. ( 29463618 )
2018
2
Esophageal Intramural Pseudodiverticulosis with Tracking in a Child with Autosomal Dominant Hyper-IgE Syndrome. ( 29746342 )
2018
3
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )
2018
4
Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. ( 29552943 )
2018
5
Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation. ( 29368105 )
2018
6
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. ( 29868029 )
2018
7
Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. ( 29419892 )
2018
8
Autosomal-Recessive Hyper-IgE Syndrome. ( 29527033 )
2018
9
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. ( 28939137 )
2017
10
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. ( 29269803 )
2017
11
Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome. ( 28587312 )
2017
12
Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation. ( 28167354 )
2017
13
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
14
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. ( 28203787 )
2017
15
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. ( 28197791 )
2017
16
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. ( 28803389 )
2017
17
Acute cardiac disease in a patient with hyper-IgE syndrome. ( 28884991 )
2017
18
Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome. ( 29093656 )
2017
19
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin Positive S. aureus Mimic Hyper IgE Syndrome in an Infant. ( 28938255 )
2017
20
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
21
Hyper IgE Syndrome and Renal Cell Carcinoma. ( 28607797 )
2017
22
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. ( 28562253 )
2017
23
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. ( 28902078 )
2017
24
Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome. ( 28643229 )
2017
25
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. ( 28315006 )
2017
26
Pediatric anaphylaxis and hyper IgE syndrome. ( 28280372 )
2017
27
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
28
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. ( 27423495 )
2016
29
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. ( 27315770 )
2016
30
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. ( 27333819 )
2016
31
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. ( 26743515 )
2016
32
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. ( 27488252 )
2016
33
Hyper-IgE Syndrome in an Infant. ( 26801049 )
2016
34
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. ( 27799162 )
2016
35
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. ( 27091139 )
2016
36
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. ( 26592211 )
2016
37
Liver abscess in a boy with hyper IgE syndrome. ( 27843873 )
2016
38
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. ( 26659092 )
2016
39
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. ( 27226025 )
2016
40
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. ( 26148752 )
2015
41
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. ( 26687240 )
2015
42
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. ( 25796310 )
2015
43
Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. ( 26293184 )
2015
44
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. ( 26304966 )
2015
45
Caring for children with hyper-IgE syndrome. ( 26166283 )
2015
46
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome. ( 26472314 )
2015
47
An 8 minute colorimetric paper-based reverse phase vertical flow serum microarray for screening of hyper IgE syndrome. ( 26365343 )
2015
48
Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome. ( 26453584 )
2015
49
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. ( 25962528 )
2015
50
Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome). ( 25814298 )
2015
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6
(show top 50) (show all 298)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
2 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
3 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
4 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
5 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
6 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
7 PGM3 NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del) deletion Pathogenic rs267608259 GRCh38 Chromosome 6, 83178682: 83178684
8 PGM3 NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del) deletion Pathogenic rs267608259 GRCh37 Chromosome 6, 83888401: 83888403
9 DOCK8 NM_203447.3(DOCK8): c.4886+3A> G single nucleotide variant Benign rs2360712 GRCh37 Chromosome 9, 433978: 433978
10 DOCK8 NM_203447.3(DOCK8): c.4886+3A> G single nucleotide variant Benign rs2360712 GRCh38 Chromosome 9, 433978: 433978
11 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh37 Chromosome 9, 441952: 441952
12 DOCK8 NM_203447.3(DOCK8): c.5433G> A (p.Glu1811=) single nucleotide variant Benign rs1887957 GRCh38 Chromosome 9, 441952: 441952
13 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh37 Chromosome 9, 289597: 289597
14 DOCK8 NM_203447.3(DOCK8): c.404+16delT deletion Benign/Likely benign rs727505303 GRCh38 Chromosome 9, 289597: 289597
15 DOCK8 NM_203447.3(DOCK8): c.1238A> G (p.Asn413Ser) single nucleotide variant Benign rs10970979 GRCh37 Chromosome 9, 334337: 334337
16 DOCK8 NM_203447.3(DOCK8): c.1238A> G (p.Asn413Ser) single nucleotide variant Benign rs10970979 GRCh38 Chromosome 9, 334337: 334337
17 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh37 Chromosome 9, 396836: 396836
18 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 GRCh38 Chromosome 9, 396836: 396836
19 DOCK8 NM_203447.3(DOCK8): c.4785+6C> G single nucleotide variant Benign rs7036567 GRCh37 Chromosome 9, 432330: 432330
20 DOCK8 NM_203447.3(DOCK8): c.4785+6C> G single nucleotide variant Benign rs7036567 GRCh38 Chromosome 9, 432330: 432330
21 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh37 Chromosome 9, 434897: 434897
22 DOCK8 NM_203447.3(DOCK8): c.5001C> T (p.His1667=) single nucleotide variant Benign/Likely benign rs35662752 GRCh38 Chromosome 9, 434897: 434897
23 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh37 Chromosome 9, 286593: 286593
24 DOCK8 NM_203447.3(DOCK8): c.289C> A (p.Pro97Thr) single nucleotide variant Benign rs529208 GRCh38 Chromosome 9, 286593: 286593
25 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh37 Chromosome 9, 312134: 312134
26 DOCK8 NM_203447.3(DOCK8): c.709G> A (p.Glu237Lys) single nucleotide variant Benign/Likely benign rs11789099 GRCh38 Chromosome 9, 312134: 312134
27 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh37 Chromosome 9, 421032: 421032
28 DOCK8 NM_203447.3(DOCK8): c.4107C> G (p.Leu1369=) single nucleotide variant Benign rs2297079 GRCh38 Chromosome 9, 421032: 421032
29 STAT3 NM_139276.2(STAT3): c.1601-8dupT duplication Benign rs3830585 GRCh37 Chromosome 17, 40475651: 40475651
30 STAT3 NM_139276.2(STAT3): c.1601-8dupT duplication Benign rs3830585 GRCh38 Chromosome 17, 42323633: 42323633
31 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh38 Chromosome 9, 396872: 396872
32 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 GRCh37 Chromosome 9, 396872: 396872
33 DOCK8 NM_203447.3(DOCK8): c.3543A> G (p.Val1181=) single nucleotide variant Conflicting interpretations of pathogenicity rs753242273 GRCh37 Chromosome 9, 414794: 414794
34 DOCK8 NM_203447.3(DOCK8): c.3543A> G (p.Val1181=) single nucleotide variant Conflicting interpretations of pathogenicity rs753242273 GRCh38 Chromosome 9, 414794: 414794
35 DOCK8 NM_203447.3(DOCK8): c.3840+3A> G single nucleotide variant Benign/Likely benign rs16938572 GRCh37 Chromosome 9, 418210: 418210
36 DOCK8 NM_203447.3(DOCK8): c.3840+3A> G single nucleotide variant Benign/Likely benign rs16938572 GRCh38 Chromosome 9, 418210: 418210
37 DOCK8 NM_203447.3(DOCK8): c.952G> A (p.Ala318Thr) single nucleotide variant Benign/Likely benign rs35482838 GRCh37 Chromosome 9, 328079: 328079
38 DOCK8 NM_203447.3(DOCK8): c.952G> A (p.Ala318Thr) single nucleotide variant Benign/Likely benign rs35482838 GRCh38 Chromosome 9, 328079: 328079
39 DOCK8 NM_203447.3(DOCK8): c.1193G> A (p.Arg398Gln) single nucleotide variant Uncertain significance rs147287319 GRCh37 Chromosome 9, 334292: 334292
40 DOCK8 NM_203447.3(DOCK8): c.1193G> A (p.Arg398Gln) single nucleotide variant Uncertain significance rs147287319 GRCh38 Chromosome 9, 334292: 334292
41 STAT3 NM_139276.2(STAT3): c.1979T> C (p.Met660Thr) single nucleotide variant Likely pathogenic rs886039434 GRCh37 Chromosome 17, 40474422: 40474422
42 STAT3 NM_139276.2(STAT3): c.1979T> C (p.Met660Thr) single nucleotide variant Likely pathogenic rs886039434 GRCh38 Chromosome 17, 42322404: 42322404
43 DOCK8 NM_203447.3(DOCK8): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs886063849 GRCh37 Chromosome 9, 286522: 286522
44 DOCK8 NM_203447.3(DOCK8): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs886063849 GRCh38 Chromosome 9, 286522: 286522
45 DOCK8 NM_203447.3(DOCK8): c.447A> G (p.Gly149=) single nucleotide variant Uncertain significance rs763034264 GRCh37 Chromosome 9, 304623: 304623
46 DOCK8 NM_203447.3(DOCK8): c.447A> G (p.Gly149=) single nucleotide variant Uncertain significance rs763034264 GRCh38 Chromosome 9, 304623: 304623
47 DOCK8 NM_203447.3(DOCK8): c.536C> T (p.Pro179Leu) single nucleotide variant Uncertain significance rs772181121 GRCh37 Chromosome 9, 311961: 311961
48 DOCK8 NM_203447.3(DOCK8): c.536C> T (p.Pro179Leu) single nucleotide variant Uncertain significance rs772181121 GRCh38 Chromosome 9, 311961: 311961
49 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 GRCh38 Chromosome 9, 312088: 312088
50 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 GRCh37 Chromosome 9, 312088: 312088
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 64
Show member pathways
 13.31 IFNG IL4 IL4R STAT3 TYK2
2
Cytokine Signaling in Immune system 66
Show member pathways
 13.16 IFNG IGHE IL4 IL4R STAT3 TYK2
3
p70S6K Signaling 64
Show member pathways
 12.87 IL4 IL4R STAT3 TYK2
4
PI3K-Akt signaling pathway 37
Show member pathways
 12.79 IL4 IL4R TLR2 TYK2
5
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.73 IGHE IL4 IL4R STAT3 TYK2
6
Pathways in cancer 37
12.63 IFNG IL4 IL4R STAT3
7
IL-2 Pathway 64
Show member pathways
 12.6 IFNG IL4 IL4R TLR2
8
Influenza A 37
Show member pathways
 12.58 IFNG IL4 STAT3 TLR2 TYK2
9
NF-kappaB Signaling 4
12.28 IFNG IL4 STAT3 TLR2 TYK2
10
CNTF Signaling 64
Show member pathways
 12.27 STAT3 TLR2 TYK2
11
Regulation of IFNA signaling 66
Show member pathways
 12.25 IFNG IL4 IL4R STAT3 TYK2
12
IL-17 Family Signaling Pathways 65
Show member pathways
 12.18 IFNG IL4 STAT3 TLR2
13
Type I Interferon Signaling Pathways 65
Show member pathways
 12.13 IFNG STAT3 TYK2
14
Epstein-Barr virus infection 37
12.12 IFNG STAT3 TYK2
15
Th1 Differentiation Pathway 65
Show member pathways
 12.05 IFNG STAT3 TLR2 TYK2
16
Necroptosis 37
Show member pathways
 12.03 IFNG STAT3 TYK2
17
Bacterial infections in CF airways 22
Show member pathways
 12 IFNG IL4 TLR2
18
Colorectal Cancer Metastasis 64
11.99 IFNG STAT3 TLR2
19
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.9 IFNG IL4 IL4R STAT3
20
Toxoplasmosis 37
Show member pathways
 11.83 IFNG IL4 STAT3 TLR2 TYK2
21
Jak-Stat Signaling Pathway 67
11.68 IFNG IL4R STAT3 TYK2
22
IL12-mediated signaling events 1
Show member pathways
 11.68 IFNG IL4 STAT3 TYK2
23
IL4-mediated signaling events 1
11.54 IGHE IL4 IL4R
24
Th17 cell differentiation 37
Show member pathways
 11.52 IFNG IL4 IL4R STAT3 TLR2 TYK2
25
Interleukin-4 and 13 signaling 66
11.41 IGHE IL4 IL4R STAT3 TYK2
26
Interleukin-10 signaling 66
11.4 IL4 STAT3 TYK2
27
Malaria 37
11.39 HBA2 IFNG TLR2
28
MSP-RON Signaling 64
11.37 IFNG TLR2
29
Th2 Differentiation Pathway 65
11.35 IFNG IL4 IL4R
30
Interleukin-11 Signaling Pathway 1
11.33 STAT3 TYK2
31
Jak/STAT Signaling Pathway Intracellular Regulation 65
11.27 STAT3 TYK2
32
Type III Interferon Signaling Pathways 65
Show member pathways
 11.26 STAT3 TYK2
33
African trypanosomiasis 37
11.21 HBA2 IFNG
34
IL-10 Pathway 64
11.2 STAT3 TYK2
35
Development and heterogeneity of the ILC family 1
11.16 IFNG IL4
36
Inflammatory Response Pathway 1
11.15 IFNG IL4 IL4R
37
Cytokines and Inflammatory Response 1
11.13 IFNG IL4
38
IL12 signaling mediated by STAT4 1
11.08 IFNG STAT3
39
OX40 Pathway 64
11.05 IFNG IL4
40
Immune response_IL-12 signaling pathway 22
Show member pathways
 11.04 IFNG STAT3 TYK2
41
IL1 and megakaryocytes in obesity 1
11.03 IFNG TLR2
42
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.87 STAT3 TYK2
Sources

GO Terms for Hyper Ige Syndrome

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Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-12-mediated signaling pathway GO:0035722 9.37 IFNG TYK2
2 immune response GO:0006955 9.35 IFNG IGHE IL4 IL4R TLR2
3 positive regulation of interleukin-12 production GO:0032735 9.32 IFNG TLR2
4 interleukin-27-mediated signaling pathway GO:0070106 9.26 STAT3 TYK2
5 interleukin-23-mediated signaling pathway GO:0038155 9.16 STAT3 TYK2
6 cytokine-mediated signaling pathway GO:0019221 9.02 IGHE IL4 IL4R STAT3 TYK2
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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